Klippel-Feil syndrome 3, autosomal dominant

Definition

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.

Also known as GDF3 isolated Klippel-Feil syndrome, isolated Klippel-Feil syndrome caused by mutation in GDF3, Klippel-Feil syndrome 3, autosomal dominant — per MONDO

Also identified as

• DOID 0080591 per MONDO
• OMIM 613702 per MONDO
• UMLS C3150967 per MONDO